Results 111 to 120 of about 51,494 (318)

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]

, 2015
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili, Antonio Musarò, Arnold, Biamonte, Bianchi, Bielli, Bielli, Bose, Branchu, Bricceno, Burnett, Bäumer, Cai, Chen, Cho, Claudio Sette, Ehrmann, Feng, Fu, Galarneau, Hofmann, Hofmann, Hua, Huot, Iascone, Iijima, Kashima, Kashima, Laura Pelosi, Le, Li, Ling, Lorson, Lukong, Mammucari, Marcello D’Amelio, Maria Blaire Bustamante, Maria Grazia Berardinelli, Mende, Nurputra, Paronetto, Paronetto, Pedrotti, Pedrotti, Richard, Ruggiu, Shababi, Singh, Vittoria Pagliarini, Wahl, West, Zhang   +51 more
core   +2 more sources

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion

Genome Biology, 2017
CRISPR is widely used to disrupt gene function by inducing small insertions and deletions. Here, we show that some single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exons. For example, CRISPR-mediated editing of β-
Haiwei Mou, Jordan L. Smith, Lingtao Peng, Hao Yin, Jill Moore, Xiao-Ou Zhang, Chun-Qing Song, Ankur Sheel, Qiongqiong Wu, Deniz M. Ozata, Yingxiang Li, Daniel G. Anderson, Charles P. Emerson, Erik J. Sontheimer, Melissa J. Moore, Zhiping Weng, Wen Xue   +16 more
doaj   +1 more source

Tepotinib in patients with NSCLC harbouring MET exon 14 skipping: Japanese subset analysis from the Phase II VISION study [PDF]

, 2021
Hiroshi Sakai, Masahiro Morise, Terufumi Kato, Shingo Matsumoto, Tomohiro Sakamoto, Toru Kumagai, Takaaki Tokito, Shinji Atagi, Toshiyuki Kozuki, Hiroshi Tanaka, Kenichi Chikamori, Naofumi Shinagawa, Hiroaki Takeoka, Rolf Bruns, Josef Straub, Karl Maria Schumacher, Paul K. Paik   +16 more
openalex   +1 more source

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome

The Journal of Pathology, EarlyView.
Abstract MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non‐syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain ...
Tao Shi, Yu Huang, Xiaohuan Su, Lisheng Yu, Yixin Zhao, Jing Cheng   +5 more
wiley   +1 more source

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis [PDF]

, 2010
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43.
A Yokoseki, BA Hosler, C Lomen-Hoerth, C Vance, Christopher J. McDermott, D Neary, DR Rosen, E Buratti, E Buratti, E Kabashi, Emily F. Goodall, F Gros-Louis, GM Ringholz, H Daoud, Hannah C. Hollinger, I Gijselinck, IF Wang, IR Mackenzie, J Kirby, J Sreedharan, J. Robin Highley, Janine Kirby, JJ Kew, Judith A. Hartley, Karen E. Morrison, L Benajiba, L Corrado, M Morita, M Neumann, MJ Strong, MJ Winton, NJ Rutherford, P Kuhnlein, PA Mercado, Pamela J. Shaw, Paul G. Ince, PM Andersen, R Bo Del, R Lemmens, Rachel Hibberd, RJ Guerreiro, Rudo Masanzu, SH Ou, Stephen B. Wharton, VM Deerlin Van, William Smith, YM Ayala   +46 more
core   +1 more source

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

Pediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou, Christopher L.‐H. Huang, Ying Yang, Yanmin Zhang   +3 more
wiley   +1 more source

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice

Molecular Therapy: Nucleic Acids, 2017
Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene.
Lodewijk J.A. Toonen, Frank Rigo, Haico van Attikum, Willeke M.C. van Roon-Mom   +3 more
doaj   +1 more source

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]

, 2018
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I, Han, Y, Lang, Y, Liu, X, Shao, L., Wang, J, Wang, Q, Zhang, R   +7 more
core   +2 more sources

Staging concept for aging management: Definition, mechanism, and coping strategies

VIEW, EarlyView.
We divided the overall aging stage into “pre‐aging”, “aging compensation”, and “aging disability”. For each stage, we delineate the clinical presentations, biological phenomena, theoretical underpinnings, and key management priorities. Abstract Aging, as a gradual and largely irreversible biological process, characterized by declining organismal ...
Zhonghan Wang, Shixian Liu, Shangyu Du, Xiangran Cui, Bo Chao, Minglei Liu, Minfei Wu   +6 more
wiley   +1 more source